1/5 JSM Clin Cytol Pathol 5: 5
JSM Clinical Cytology and Pathology
Submitted: 01 March 2020 | Accepted: 16 March 2020 | Published: 18
March 2020
*Corresponding author: YassinNayel, Department of Pathology, American
University of the Caribbean School of Medicine, USA (#1 University Drive
at Jordan Road, Cupecoy, Sint Maarten),Tel: 604-815-8929; Email:
yassinnayel@students.aucmed.edu
Copyright: © 2020 Nayel Y, et al. This is an open-access article
distributed under the terms of the Creative Commons Attribution
License, which permits unrestricted use, distribution, and reproduction in
any medium, provided the original author and source are credited.
Citation: Nayel Y, Jackson G, Taylor M, Varney J, Alkhoudr N, et al. (2020)
Extraskeletal Myxoid Chondrosarcoma in Comparison to Myxoid Liposar-
coma - Case Report of a Challenging Diagnosis and Brief Review of the
Literature. JSM Clin Cytol Pathol 5: 5.
Extraskeletal Myxoid Chondrosarcoma in
Comparison to Myxoid Liposarcoma - Case Report
of a Challenging Diagnosis and Brief Review of the
Literature
Yassin Nayel
1
*, Garrett Jackson
1
, Matilda Taylor
2
, Joseph Varney
1
, Nour Alkhoudr
1
, Kollin Kahler
1
,
and Mohamed Aziz
1
1
Department of Pathology, American University of the Caribbean School of Medicine, USA
2
Quest University Canada, BC, Canada
Abstract
Extraskeletalmyxoidchondrosarcoma is an uncommon soft tissue sarcoma that can resemble a much more common sarcoma,
myxoidliposarcoma, leading to misdiagnosis. This has important clinical implications as these pathologies differ in treatment, recurrence
rates, and metastasis. Here, we present a case of a 29-year-old man, who presented with a large soft tissue mass at the front of the left
ankle. This case presented a diagnostic challenge based on histomorphology and IHC studies alone. Molecular testing was essential for
defnitive diagnosis due to lack of agreement among soft tissue pathology experts. Reporting cases of EMC is imperative in order to bridge
the gap between the known pathological features of this tumor and the consideration of this neoplasm in differential diagnoses.
Abbreviations
ML: Myxoid Liposarcoma; EMC: Extraskeletal Myxoid
Chondrosarcoma; IHC: Immunohistochemical
Introduction
Liposarcoma, a tumor of lipoblasts, is the most common
soft tissue sarcoma in adults involving deep soft tissues. Among
other sites, it can be found in the retroperitoneum and popliteal
fossa [1]. One genetically distinct variant of liposarcoma,
myxoidliposarcoma (ML), is characterized by a t(12:16)
translocation combining the DDIT3 gene on Chr. 12 with the FUS
gene on Chr. 16 [2]. ML represents 30-50% of all liposarcoma
cases [3]. It mostly occurs in the lower extremities and has a
propensity to metastasize to non-pulmonary soft tissues, such
as bone or the contralateral limb [3]. A characteristic of ML is
a round cell component composed of uniform oval-shaped cells
and signet-ring cell lipoblasts on a background of myxoidstroma.
The presence of this small round cell component in more than
5% of the tumor mass is indicative of an aggressive behavior [4].
An additional sarcoma with a similar round cell component
is extraskeletalmyxoidchondrosarcoma (EMC), which on
clinicopathological findings is similar to ML [5]. First described
by Stout and Verner in 1953 [6], this sarcoma accounts for less
than 2.5% of all soft tissue sarcomas [7]. The rare occurrence of
EMC, along with its similar presentations to ML, often leads to
misdiagnosis and underrepresentation of EMC due to the lack
of its consideration as part of the differential diagnosis [8]. EMC
has specific pathological features, immunohistochemical (IHC)
profile, and is characterized by a specific genetic translocation that
can aid in a proper diagnosis [9]. We present a case of EMC that
presented a diagnostic challenge on the basis of histomorphology
and IHC studies alone and highlights the importance of molecular
studies that were essential for definitive diagnosis.
Case Presentation
A 29-year-old male presented with a large soft tissue mass
measuring 6.5 X 3 cm at the front of the left ankle.Magnetic
resonance imaging (MRI) revealed a soft tissue tumor mass with
an isointense signal at the front of the lower part of the left tibia
(Figure 1A). A small core biopsy was performed, but the diagnosis
was inconclusive.The mass was excised, and gross findings
showed a relatively well demarcated tumor mass encased by a
pseudocapsule. It divided into multiple gelatinous nodules by
fibrous septa. Multifocal intramural cysts and hemorrhage were
also seen (Figure 1B). Microscopic examination revealed a large,
relatively well-demarcated, multinodular tumor contained by a
pseudo fibromembranous capsule. The tumor consisted of myxoid
areas containing cords and cellular aggregates of mesenchymal
cells demarcated by dense fibrous septa. The cellular
component displayed a spectrum of histomorphology. The cells
predominantly formed linear cords and small aggregates, and
some areas showed a complex cribriform appearance. Rhabdoid-
like cells with eccentric hyaline globules were occasionally
found within the tumor. The tumor showed focal cellular
areas composed of large cells with vesicular nuclei and deeply
Case Report
© Nayel Y, et al. 2020